Angelman SyndromeISBN: 978-1-898683-55-1
Paperback
256 pages
July 2008
|
● A comprehensive review of clinical and genetic issues,
natural history, possible pathophysiological pathways, specific
clinical problems, clinical neurophysiology, neuropathology,
rehabilitation and basic research in the field of Angelman
syndrome
● A neurogenetic disorder characterised by developmental delay, absence of speech, motor impairment, epilepsy and a distinctive behavioural phenotype
● Angelman syndrome is caused by the lack of expression of the UBE3A gene associated with various abnormalities of chromosome 15q11-13
● Features a wide range of photographic and graphic illustrations
● Includes chapter cross-referencing to ensure easy direction to development of topical issues
● Concludes each chapter with a critical summary featuring rehabilitation and research agenda
● A neurogenetic disorder characterised by developmental delay, absence of speech, motor impairment, epilepsy and a distinctive behavioural phenotype
● Angelman syndrome is caused by the lack of expression of the UBE3A gene associated with various abnormalities of chromosome 15q11-13
● Features a wide range of photographic and graphic illustrations
● Includes chapter cross-referencing to ensure easy direction to development of topical issues
● Concludes each chapter with a critical summary featuring rehabilitation and research agenda